Article
Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease.
Neurobiology of aging - 1 Nov 2014
Hatano Taku, Funayama Manabu, Kubo Shin-Ichiro, Mata Ignacio F, Oji Yutaka, Mori Akio, Zabetian Cyrus P, Waldherr Sarah M, Yoshino Hiroyo, Oyama Genko, Shimo Yasushi, Fujimoto Ken-Ichi, Oshima Hirokazu, Kunii Yasuto, Yabe Hirooki, Mizuno Yoshikuni, Hattori Nobutaka
Abstract excerpt
Leucine-rich repeat kinase 2 (LRRK2) is a causative gene of autosomal dominant familial Parkinson's disease (PD). We screened for LRRK2 mutations in 3 frequently reported exons (31, 41, and 48) in our cohort of 871 Japanese patients with PD (430 with sporadic PD and 441 probands with familial PD). Direct sequencing analysis of LRRK2 revealed 1 proband (0.11%) with a p.R1441G mutation, identified for the first...
Topics
- Adult
- Aged
- Asian People
- Cohort Studies
- Exons
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Haplotypes
- Humans